Geno
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Mag
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Summary
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(G;G)
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0
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common in clinvar
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[PMID 17855560] Insulin gene mutations as a cause of permanent neonatal diabetes.
[PMID 17855] Limitations of present drug therapy of cardiac arrhythmias--a review.
[PMID 18162506] Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
[PMID 18436707] Neonatal diabetes mellitus.
[PMID 18840770] Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies.
[PMID 20034470] Mutant proinsulin proteins associated with neonatal diabetes are retained in the endoplasmic reticulum and not efficiently secreted.
[PMID 20938745] Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.
[PMID 17047922] Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.
[PMID 18171712] Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.